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FLASH GENE
Symbol SOX7 contributors: mct - updated : 17-10-2012
HGNC name SRY (sex determining region Y)-box 7
HGNC id 18196
Corresponding disease
DEL8P23 chromosome 8p23.1 deletion
DIH2 congenital diaphragmatic hernia and 8p23.1 deletion
Location 8p23.1      Physical location : 10.581.278 - 10.588.022
Synonym name
  • SOX7 transcription factor
  • SRY-box 7
  • Synonym symbol(s) MGC10895
    DNA
    TYPE functioning gene
    STRUCTURE 6.74 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    Physical map
    LOC389623 8 LOC389623 MSRA 8p23.1 methionine sulfoxide reductase A LOC346702 8p23.1 similar to tryptophan/serine protease RP1L1 8p23 retinitis pigmentosa 1-like 1 LOC203076 8p23.1 similar to 4930578I06Rik protein SOX7 8p22 SRY (sex determining region Y)-box 7 PINX1 8p23 SRY (sex determining region Y)-box 7 LOC389624 8 LOC389624 LOC286046 8p23.1 hypothetical protein LOC286046 C8orf5 8p22 chromosome 8 open reading frame 5 C8orf15 8p23.1 chromosome 8 open reading frame 15 C8orf6 8p23.1 chromosome 8 open reading frame 6 C8orf7 8p22 chromosome 8 open reading frame 7 LOC392193 8 similar to 60S ribosomal protein L19 LOC157740 8p23.1 hypothetical protein C8orf9 MTMR9 8p23-p22 myotubularin related protein 9 AMAC 8p22 acyl-malonyl condensing enzyme TDH 8p22 L-threonine dehydrogenase C8orf12 8p22 chromosome 8 open reading frame 12 C8orf13 8p22 chromosome 8 open reading frame 13 BLK 8p23-p22 B lymphoid tyrosine kinase C8orf14 8p22 chromosome 8 open reading frame 14 GATA4 8p23.1 GATA binding protein 4 NEIL2 8p23.1 nei like 2 (E. coli) LOC389625 8 similar to Activated RNA polymerase II transcriptional coactivator p15 (Positive cofactor 4) (PC4) (p14) FDFT1 8p23.1-p22 farnesyl-diphosphate farnesyltransferase 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 3219 42.2 388 - 2008 18682240
    EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart     Homo sapiens
    Respiratorydiaphragm     Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text
  • brain, heart, lung, kidney, prostate, colon, spleen
  • SOX7 cells appear restricted to the extraembryonic endoderm
  • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • 79AA DNA binding domain
  • C terminal transactivation domain
  • HOMOLOGY
    interspecies homolog to murine Sox7
    Homologene
    FAMILY
  • SRY-related HMG box family of transcription factors
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • potent activator of transcription
  • is potentially a tumor suppressor that functions as an independent checkpoint for beta-catenin transcriptional activity
  • both SOX7 and SOX15 are able to induce the early stages of myogenesis, but only SOX7 is sufficient to initiate the formation of fully differentiated skeletal myocytes
  • important player in the molecular regulation of the first committed blood precursors
  • is involved in aspirin-mediated growth inhibition of human colorectal cancer
  • involved in the transcriptional regulation of genes expressed in the haemogenic endothelium
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA binding to the 5'-AACAAT-3 sequence
    RNA
    small molecule
    protein
  • WNT/beta catenin-(repression of WNT stimulated transcription)
  • binds and activates the promoter of CDH5, demonstrating that this gene is a novel downstream transcriptional target of SOX7
  • cell & other
    REGULATION
    activated by by aspirin
    ASSOCIATED DISORDERS
    corresponding disease(s) DEL8P23 , DIH2
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --low  
    in human colorectal cancer cell lines and in primary colorectal tumor tissues, and the SOX7 silencing was partially due to the aberrant DNA methylation of the gene
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS